Incidental Mutation 'R5801:Slco4c1'
ID 448317
Institutional Source Beutler Lab
Gene Symbol Slco4c1
Ensembl Gene ENSMUSG00000040693
Gene Name solute carrier organic anion transporter family, member 4C1
Synonyms C330017E21Rik, SLC21A20, PRO2176, OATP4C1, OATP-M1, OATP-H
MMRRC Submission 043390-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.319) question?
Stock # R5801 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 96744918-96800027 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96799809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 9 (N9S)
Ref Sequence ENSEMBL: ENSMUSP00000071875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071985]
AlphaFold Q8BGD4
Predicted Effect probably damaging
Transcript: ENSMUST00000071985
AA Change: N9S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000071875
Gene: ENSMUSG00000040693
AA Change: N9S

DomainStartEndE-ValueType
low complexity region 55 72 N/A INTRINSIC
Pfam:MFS_1 102 483 1.3e-19 PFAM
KAZAL 503 547 1.67e-1 SMART
transmembrane domain 666 688 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181489
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202118
Meta Mutation Damage Score 0.1113 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 T A 4: 144,430,206 (GRCm39) D261V probably damaging Het
Adam15 C T 3: 89,249,668 (GRCm39) V667I probably damaging Het
Adamts14 T C 10: 61,038,775 (GRCm39) S912G probably damaging Het
Adamts20 C A 15: 94,245,551 (GRCm39) E584* probably null Het
Ago3 A T 4: 126,265,561 (GRCm39) N284K possibly damaging Het
Alx3 T A 3: 107,512,257 (GRCm39) Y298* probably null Het
Arhgap32 A G 9: 32,167,084 (GRCm39) I574V probably benign Het
Bsn C T 9: 107,990,208 (GRCm39) R1848Q possibly damaging Het
Caskin2 T C 11: 115,694,299 (GRCm39) D400G probably damaging Het
Cdc73 T A 1: 143,484,281 (GRCm39) H525L probably benign Het
Cep135 A G 5: 76,778,523 (GRCm39) E674G probably damaging Het
Cic G A 7: 24,970,863 (GRCm39) R198Q possibly damaging Het
Col5a2 T C 1: 45,428,641 (GRCm39) probably null Het
Col6a5 A G 9: 105,825,566 (GRCm39) V9A unknown Het
Cpsf7 A T 19: 10,516,996 (GRCm39) D366V probably benign Het
Cuedc2 T C 19: 46,319,796 (GRCm39) E173G probably damaging Het
D5Ertd579e T C 5: 36,761,913 (GRCm39) E1318G probably damaging Het
Ddx55 T C 5: 124,704,560 (GRCm39) probably null Het
Dennd1b T A 1: 138,967,727 (GRCm39) probably null Het
Dpy19l3 T C 7: 35,424,723 (GRCm39) T111A probably benign Het
Edn1 C A 13: 42,460,282 (GRCm39) A179E probably benign Het
Eif2b1 T C 5: 124,712,775 (GRCm39) probably null Het
Epha5 A G 5: 84,479,085 (GRCm39) probably null Het
Erc1 T A 6: 119,750,783 (GRCm39) N466I probably damaging Het
Ermp1 A G 19: 29,590,228 (GRCm39) F825L probably damaging Het
Fbh1 T C 2: 11,774,637 (GRCm39) D36G probably damaging Het
Fbxo41 G T 6: 85,461,515 (GRCm39) F64L probably damaging Het
Gabrb2 T C 11: 42,312,216 (GRCm39) S14P probably benign Het
Gm6505 A T 3: 28,819,116 (GRCm39) noncoding transcript Het
Ighv1-18 T A 12: 114,646,328 (GRCm39) D91V probably damaging Het
Imp3 A G 9: 56,845,086 (GRCm39) D99G probably benign Het
Iqub T C 6: 24,449,768 (GRCm39) K699R probably benign Het
Itpk1 A G 12: 102,540,204 (GRCm39) V293A probably damaging Het
Lrrc49 A T 9: 60,509,916 (GRCm39) F157L probably damaging Het
Mapk1ip1 T A 7: 138,438,239 (GRCm39) T64S possibly damaging Het
Mrpl9 T C 3: 94,355,103 (GRCm39) L225P possibly damaging Het
Ms4a14 A G 19: 11,279,150 (GRCm39) L1136S possibly damaging Het
Ms4a14 A T 19: 11,279,246 (GRCm39) I1104K possibly damaging Het
Nkain2 T C 10: 32,278,264 (GRCm39) T54A probably damaging Het
Ociad2 A G 5: 73,483,642 (GRCm39) F60S probably damaging Het
Or1e1f T C 11: 73,855,772 (GRCm39) F113L probably benign Het
Polk T A 13: 96,620,094 (GRCm39) H723L probably damaging Het
Prickle4 C A 17: 47,999,698 (GRCm39) R285L possibly damaging Het
Psmd2 A G 16: 20,473,672 (GRCm39) N121S probably damaging Het
Rab11fip5 T A 6: 85,314,582 (GRCm39) S1212C probably damaging Het
Rasgef1c T G 11: 49,860,883 (GRCm39) M266R probably damaging Het
Rpusd4 A G 9: 35,181,369 (GRCm39) E155G possibly damaging Het
Rrbp1 A G 2: 143,831,703 (GRCm39) S155P probably damaging Het
Safb2 T C 17: 56,870,103 (GRCm39) Y991C possibly damaging Het
Shank1 G A 7: 44,006,240 (GRCm39) E1986K possibly damaging Het
Slc22a14 A G 9: 119,001,149 (GRCm39) F482L probably benign Het
Slc35e3 T A 10: 117,581,767 (GRCm39) M109L probably benign Het
Slco6b1 C T 1: 96,875,356 (GRCm39) noncoding transcript Het
Sptan1 A G 2: 29,920,613 (GRCm39) probably null Het
Sptlc2 T C 12: 87,388,545 (GRCm39) probably null Het
Stk10 C T 11: 32,546,748 (GRCm39) P335L probably benign Het
Strip1 A C 3: 107,528,757 (GRCm39) L391R possibly damaging Het
Tacr1 T A 6: 82,534,134 (GRCm39) S387T probably benign Het
Thbs2 A T 17: 14,908,125 (GRCm39) F213I probably damaging Het
Thbs3 A T 3: 89,131,704 (GRCm39) Y692F probably benign Het
Tktl2 C A 8: 66,966,299 (GRCm39) A619E probably benign Het
Tmc3 A T 7: 83,271,686 (GRCm39) E946V possibly damaging Het
Tmem132d A G 5: 127,861,964 (GRCm39) V719A possibly damaging Het
Trpa1 T C 1: 14,968,302 (GRCm39) H488R probably damaging Het
Tsfm TCACTCC TCACTCCACTCC 10: 126,858,706 (GRCm39) probably null Het
Wdr35 A G 12: 9,056,723 (GRCm39) T503A possibly damaging Het
Zfp109 T C 7: 23,928,126 (GRCm39) K436E probably damaging Het
Zfp423 A G 8: 88,585,990 (GRCm39) Y78H probably damaging Het
Zfp970 A G 2: 177,165,151 (GRCm39) K26E probably damaging Het
Other mutations in Slco4c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Slco4c1 APN 1 96,768,912 (GRCm39) missense probably damaging 0.99
IGL01510:Slco4c1 APN 1 96,795,678 (GRCm39) missense probably damaging 1.00
IGL01674:Slco4c1 APN 1 96,770,218 (GRCm39) missense probably damaging 1.00
IGL02444:Slco4c1 APN 1 96,772,234 (GRCm39) missense probably damaging 1.00
IGL03355:Slco4c1 APN 1 96,770,232 (GRCm39) nonsense probably null
H8562:Slco4c1 UTSW 1 96,770,210 (GRCm39) missense probably benign 0.01
H8786:Slco4c1 UTSW 1 96,768,876 (GRCm39) missense probably damaging 1.00
R0350:Slco4c1 UTSW 1 96,756,574 (GRCm39) missense probably benign 0.18
R0463:Slco4c1 UTSW 1 96,795,645 (GRCm39) missense possibly damaging 0.93
R0550:Slco4c1 UTSW 1 96,795,584 (GRCm39) missense probably damaging 1.00
R1122:Slco4c1 UTSW 1 96,756,561 (GRCm39) missense possibly damaging 0.89
R1205:Slco4c1 UTSW 1 96,795,613 (GRCm39) missense probably damaging 1.00
R1215:Slco4c1 UTSW 1 96,756,596 (GRCm39) missense probably damaging 1.00
R1466:Slco4c1 UTSW 1 96,768,897 (GRCm39) missense probably damaging 0.97
R1466:Slco4c1 UTSW 1 96,768,897 (GRCm39) missense probably damaging 0.97
R1907:Slco4c1 UTSW 1 96,770,224 (GRCm39) missense probably damaging 1.00
R1960:Slco4c1 UTSW 1 96,795,654 (GRCm39) missense probably benign 0.00
R2372:Slco4c1 UTSW 1 96,748,925 (GRCm39) missense probably benign 0.00
R3424:Slco4c1 UTSW 1 96,768,976 (GRCm39) missense probably benign 0.02
R3425:Slco4c1 UTSW 1 96,768,976 (GRCm39) missense probably benign 0.02
R4292:Slco4c1 UTSW 1 96,772,381 (GRCm39) critical splice acceptor site probably null
R4656:Slco4c1 UTSW 1 96,768,970 (GRCm39) missense probably benign 0.01
R4852:Slco4c1 UTSW 1 96,768,953 (GRCm39) missense probably damaging 1.00
R4854:Slco4c1 UTSW 1 96,768,953 (GRCm39) missense probably damaging 1.00
R4865:Slco4c1 UTSW 1 96,768,953 (GRCm39) missense probably damaging 1.00
R4867:Slco4c1 UTSW 1 96,768,953 (GRCm39) missense probably damaging 1.00
R4898:Slco4c1 UTSW 1 96,765,237 (GRCm39) missense probably damaging 1.00
R4900:Slco4c1 UTSW 1 96,768,953 (GRCm39) missense probably damaging 1.00
R5023:Slco4c1 UTSW 1 96,768,953 (GRCm39) missense probably damaging 1.00
R5074:Slco4c1 UTSW 1 96,768,953 (GRCm39) missense probably damaging 1.00
R5348:Slco4c1 UTSW 1 96,770,254 (GRCm39) missense probably damaging 0.99
R5356:Slco4c1 UTSW 1 96,759,835 (GRCm39) missense probably damaging 1.00
R5471:Slco4c1 UTSW 1 96,799,770 (GRCm39) missense probably benign 0.34
R5683:Slco4c1 UTSW 1 96,795,559 (GRCm39) missense probably damaging 1.00
R5797:Slco4c1 UTSW 1 96,746,829 (GRCm39) missense probably benign 0.04
R5837:Slco4c1 UTSW 1 96,746,707 (GRCm39) missense probably benign 0.40
R6242:Slco4c1 UTSW 1 96,767,008 (GRCm39) missense probably damaging 0.99
R7014:Slco4c1 UTSW 1 96,751,506 (GRCm39) splice site probably null
R7112:Slco4c1 UTSW 1 96,768,866 (GRCm39) missense probably damaging 1.00
R7174:Slco4c1 UTSW 1 96,765,323 (GRCm39) missense possibly damaging 0.87
R7265:Slco4c1 UTSW 1 96,799,518 (GRCm39) missense probably damaging 0.99
R7275:Slco4c1 UTSW 1 96,799,497 (GRCm39) missense probably benign 0.38
R7305:Slco4c1 UTSW 1 96,756,690 (GRCm39) missense probably damaging 1.00
R7428:Slco4c1 UTSW 1 96,765,245 (GRCm39) missense possibly damaging 0.68
R7649:Slco4c1 UTSW 1 96,756,667 (GRCm39) missense probably benign 0.03
R7980:Slco4c1 UTSW 1 96,764,650 (GRCm39) missense probably benign 0.20
R8137:Slco4c1 UTSW 1 96,748,970 (GRCm39) missense probably damaging 1.00
R8188:Slco4c1 UTSW 1 96,772,261 (GRCm39) missense probably damaging 1.00
R8488:Slco4c1 UTSW 1 96,759,736 (GRCm39) missense probably benign 0.02
R8956:Slco4c1 UTSW 1 96,765,242 (GRCm39) missense probably damaging 1.00
R8997:Slco4c1 UTSW 1 96,795,672 (GRCm39) missense probably damaging 0.99
R9001:Slco4c1 UTSW 1 96,748,956 (GRCm39) missense probably damaging 1.00
R9163:Slco4c1 UTSW 1 96,764,633 (GRCm39) missense probably damaging 1.00
R9263:Slco4c1 UTSW 1 96,799,509 (GRCm39) missense probably damaging 1.00
R9320:Slco4c1 UTSW 1 96,795,644 (GRCm39) nonsense probably null
R9513:Slco4c1 UTSW 1 96,799,643 (GRCm39) missense probably benign
Z1176:Slco4c1 UTSW 1 96,748,955 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACCTTGCGTTAGGGCTAAGAG -3'
(R):5'- TGACCGTGCAGTGACAGATG -3'

Sequencing Primer
(F):5'- CTCATCAGAAGCTGGGGGATTC -3'
(R):5'- TGACAGATGGGGAGGGCC -3'
Posted On 2016-12-15